Nishtha Y, Maya B, Shetty Safal S, Ganaraj V H, Nupur P, Yasha T C, Netravathi M
Department of Neuroimaging and Interventional Neuroradiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Neurol India. 2020 May-Jun;68(3):657-659. doi: 10.4103/0028-3886.288998.
Ollier disease is a rare nonhereditary disorder characterized by multiple enchondromas (enchondromatosis). To report a rare case of Ollier disease with gliomas and its mutation analysis. We hereby report a young lady who presented with seizures. She had a past history of multiple bony swellings in the right foot (operated) and swelling over the anterior chest wall for the past 15 years. MRI brain revealed multiple expansile T2/FLAIR hyperintense lesions in right superior and middle frontal gyri, left basifrontal lobe, and left precuneus in the cortical-subcortical location suggestive of glioma. She underwent biopsy which revealed left basifrontal anaplastic astrocytoma, not otherwise specified, WHO grade III, IDH1 (R132H) negative, P53 mutation positive, and ATRX loss of expression. We hereby report a rare case of Ollier disease with multicentric intracranial glioma-IDH1 (R132H) negative, P53 mutation positive, and ATRX loss of expression.
骨软骨瘤病是一种罕见的非遗传性疾病，其特征为多发性内生软骨瘤（内生软骨瘤病）。报告一例罕见的骨软骨瘤病合并胶质瘤病例及其突变分析。我们在此报告一位年轻女性，她有癫痫发作症状。她既往有右脚多处骨质肿胀（已手术）病史，前胸壁肿胀已持续15年。脑部磁共振成像（MRI）显示，右侧额上回和额中回、左侧基底额叶及左侧楔前叶皮质-皮质下部位有多个膨胀性T2/液体衰减反转恢复序列（FLAIR）高信号病灶，提示胶质瘤。她接受了活检，结果显示为左侧基底额叶间变性星形细胞瘤，未另作特殊说明，世界卫生组织（WHO）分级为III级，异柠檬酸脱氢酶1（IDH1，R132H）阴性，P53突变阳性，α地中海贫血/智力低下综合征X连锁基因（ATRX）表达缺失。我们在此报告一例罕见的骨软骨瘤病合并多中心颅内胶质瘤病例，其IDH1（R132H）阴性，P53突变阳性，ATRX表达缺失。
